Catheter-Based Fetal Cardiac Interventions.

Fetal cardiac intervention (FCI) is an emerging and rapidly advancing group of interventions designed to improve outcomes for fetuses with cardiovascular disease. Currently, FCI is comprised of pharmacologic therapies (e.g., trans-placental antiarrhythmics for fetal arrhythmia), open surgical procedures (e.g., surgical resection of pericardial teratoma), and catheter-based procedures (e.g., fetal aortic valvuloplasty for aortic stenosis). This review focuses on the rationale, criteria for inclusion, technical details, and current outcomes of the three most frequently performed catheter-based FCI procedures: (1) aortic valvuloplasty for critical aortic stenosis (AS) associated with evolving hypoplastic left heart syndrome (HLHS), (2) atrial septal intervention for HLHS with severely restrictive or intact atrial septum (R/IAS), and (3) pulmonary valvuloplasty for pulmonary atresia with intact ventricular septum (PA/IVS).

Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome.

Background: Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder associated with multiple musculoskeletal anomalies, including cervical spine instability. We sought to examine the nature of imaging for cervical spine instability in children with LDS due to likely pathogenic or pathogenic variants in TGFBR1, TGFBR2, TGFB2, SMAD3, or TGFB3. Methods: A retrospective chart review was conducted, examining relevant data for all children with LDS screened at our institution from 2004 through 2021. Cervical spine X-rays were used to assess cervical instability, cervical lordosis, and basilar impression. Results: A total of 39 patients were identified; 16 underwent cervical spine screening (56.25% male). Median age at initial screening was 7 years (Q1-Q3: 3.75-14, range: 0.1-19). Six of 16 patients evaluated (37.5%) had radiographical evidence of cervical instability. Mean angles of cervical lordosis were 20° (SD = 14.1°, range = 4°-33°) and 17.3° (SD = 16.4°, range = 2°-41°), respectively. Three patients demonstrated radiographical basilar impression. Radiographic progression of cervical instability was seen in one case. All but two were managed conservatively with observation, one patient underwent surgical fixation and fusion of C1-2, the other underwent complex cervical reconstruction anterior and posterior instrumentation. Conclusion: Cervical spine evaluation is important in this cohort; we identified 37.5% had evidence of cervical spine instability, and many had concurrent spinal pathology. From our experience, we agree with the recent advisement for screening at diagnosis and for those previously diagnosed that have not undergone screening. Future study may outline more specific screening practices.

Hospital Outcomes Among Infants With Interrupted Aortic Arch With Simple and Complex Associated Heart Defects.

There is a lack of current, multi-institutional data regarding hospital outcomes of infants with interrupted aortic arch (IAA). We analyzed the Pediatric Health Information System database to identify infants with IAA who underwent repair during 2004 to 2019. We classified patients as simple or complex based on associated heart defects. We evaluated factors associated with hospital mortality and complications related to 22q11.2 deletion syndrome (22q11.2del) using mixed logistic regression, accounting for hospital clustering. In 1,283 infants included (904 simple, 379 complex), mortality was higher in the complex group (11.7% vs 4.4%, p <0.001). Factors associated with mortality in the simple group were low birth weight (adjusted risk ratio [aRR] 3.77, 95% confidence interval [95% CI] 1.83 to 7.77), non-22q11.2del genetic conditions (aRR 6.44, 95% CI 1.73 to 23.96), and gastrointestinal anomalies (aRR 8.47, 95% CI 3.12 to 22.95), whereas surgery between 2012 and 2015 (aRR 0.36, 95% CI 0.13 to 0.99) was protective. In the complex group, factors associated with mortality were male (aRR 2.32, 95% CI 1.10 to 4.24) and central nervous system anomalies (aRR 3.73, 95% CI 1.62 to 8.59). Compared with their nonsyndromic counterparts, infants with simple IAA and 22q11.2del were at higher risk of sepsis (aRR 1.63, 95% CI 1.02 to 2.39) and gastrostomy tube placement (aRR 3.18, 95% CI 2.13 to 4.74), and infants with complex IAA and 22q11.2del were at higher risk of gastrostomy tube placement (aRR 2.42, 95% CI 1.20 to 4.88). In conclusion, presence of complex cardiac lesions is associated with increased mortality after IAA repair. The co-occurrence of extracardiac congenital anomalies and non-22q11.2del genetic conditions elevates mortality risk. Presence of 22q11.2del is associated with hospital complications.